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ONTOLOGY REPORT - ANNOTATIONS


Term:Silverman-Handmaker type dyssegmental dysplasia
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Accession:DOID:0090032 term browser browse the term
Definition:An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. (DO)
Synonyms:exact_synonym: Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type;   Anisospondylic camptomicromelic dwarfism;   DDSH;   Dyssegmental Dwarfism, Silverman-Handmaker Type;   Dyssegmental dwarfism;   Dyssegmental dysplasia
 primary_id: MESH:C537998;   RDO:0003927
 alt_id: OMIM:224410
 xref: ORDO:1865
For additional species annotation, visit the Alliance of Genome Resources.


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Silverman-Handmaker type dyssegmental dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:7240710
RGD:8554872
RGD:11554173
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 JBrowse link 5 155,914,517 155,922,269 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      endocrine system disease 4789
        Dwarfism 307
          Silverman-Handmaker type dyssegmental dysplasia 2
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        connective tissue disease 2761
          bone disease 2210
            bone development disease 980
              Dwarfism 307
                Silverman-Handmaker type dyssegmental dysplasia 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.